Dr. Nelson participates in a variety of clinical research focusing on both the discovery of underlying molecular mechanism of disease and on validation of new technologies and assays for implementation in the clinical molecular genetics laboratory.


A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Sinclair GB, van Karnebeek CD, Ester M, Boyd F, Nelson T, Stockler-Ipsiroglu S, Vallance H
DOI: 10.1016/j.ymgme.2016.05.002
PubMed: 27233226

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.
Tucker T, Steinraths M, Oh T, Nelson TN, Van Allen MI, Brown L, Schlade-Bartusiak K
DOI: 10.1097/mcd.0000000000000108
PubMed: 26636500

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
Lerner-Ellis J, Wang M, White S, Lebo MS, Canadian Open Genetics Repository Group
DOI: 10.1136/jmedgenet-2014-102933
PubMed: 25904639

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T
DOI: 10.1136/jmedgenet-2015-103144
PubMed: 25951830

CCMG statement on gene patents.
Richer J, Nelson TN, Evans J, Armstrong L, Lauzon J, McGillivray B
DOI: 10.1111/cge.12009
PubMed: 23051176

Uniparental disomy: can SNP array data be used for diagnosis?
Tucker T, Schlade-Bartusiak K, Eydoux P, Nelson TN, Brown L
DOI: 10.1038/gim.2012.35
PubMed: 22538256

CCMG statement on direct-to-consumer genetic testing.
CCMG Ethics and Public Policy Committee, Nelson TN, Armstrong L, Richer J, Evans J, Lauzon J, McGillivray B, Bruyere H, Dougan S
DOI: 10.1111/j.1399-0004.2011.01789.x
PubMed: 21943145

Use of array genomic hybridization technology in prenatal diagnosis in Canada.
Duncan A, Langlois S, SOGC Genetics Committee, CCMG Prenatal Diagnosis Committee
PubMed: 22166281

Alpha1-antitrypsin deficiency: a clinical-genetic overview.
Abboud RT, Nelson TN, Jung B, Mattman A
DOI: 10.2147/tacg.s10604
PubMed: 23776367

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M
DOI: 10.1016/j.ajhg.2010.11.004
PubMed: 21129721

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF
DOI: 10.1002/ajmg.a.33071
PubMed: 19842190

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L
DOI: 10.1002/mds.22467
PubMed: 19205071

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.
Schrader KA, Nelson TN, De Luca A, Huntsman DG, McGillivray BC
DOI: 10.1111/j.1399-0004.2008.01100.x
PubMed: 19054014

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
Huculak C, Bruyere H, Nelson TN, Kozak FK, Langlois S
DOI: 10.1002/ajmg.a.31486
PubMed: 17036313

Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion.
Hewitt J, Ballard JN, Nelson TN, Smith VC, Griffiths TA, Pritchard S, Wu JK, Wadsworth LD, Casey B, MacGillivray RT
DOI: 10.1111/j.1365-2141.2004.05296.x
PubMed: 15667541

Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63).
Kelly BL, Nelson TN, McMaster WR
DOI: 10.1016/s0166-6851(01)00307-3
PubMed: 11463473